Table 1 Patient urine acylcarnitine profiles
Parameter in µmol/mmol creatinine | Asymptomatic. n = 4 Median (min.–max.) | Symptomatic. n = 3 Median (min.–max.) | |||
|---|---|---|---|---|---|
Fed | Fasted | Fed | Fasted | Decompensation | |
Total acylcarnitine | 3.19 (2.93–37.49) | 2.72 (2.04–4.84) | 5.83 (2.16–30.92) | 1.87 (1.56–9.94) | 141.78 (28.03–198.87) |
C0 | 0.95 (0.60–17.44) | 0.47 (0.34–1.39) | 2.36 (1.05–5.74) | 0.63 (0.42–0.92) | 27.15 (2.27–77.20) |
C2 | 0.24 (0.18–8.77) | 0.14 (0.09–0.94) | 0.76 (0.11–18.68) | 0.09 (0.02–5.08) | 75.60 (8.11–98.28) |
C4 | 0.22 (0.12–0.39) | 0.14 (0.06–0.20) | 0.14 (0.02–0.30) | 0.03 (0.02–0.12) | 1.17 (0.60–2.46) |
C6 | 0.065 (0.04–0.74) | 0.06 (0.04–0.09) | 0.08 (0.01–0.50) | 0.02 (0.01–0.23) | 3.84 (0.58–4.06) |
C8 | 0.295 (0.20–6.72) | 0.26 (0.20–0.74) | 0.67 (0.01–3.22) | 0.16 (0.13–0.93) | 8.34 (7.12–24.35) |
C10:1 | 0.11 (0.07–0.55) | 0.07 (0.05–0.11) | 0.11 (0.03–0.52) | 0.06 (0.03–0.15) | 0.93 (0.38–1.57) |
C10 | 0.04 (0.02–0.10) | 0.04 (0.03–0.05) | 0.05 (0.01–0.11) | 0.02 (0.02–0.15) | 0.53 (0.42–0.97) |
C12 | 0.015 (0.01–0.04) | 0.02 (0.01–0.02) | 0.02 (0.01–0.03) | 0.01 (0.01–0.03) | 0.12 (0.07–0.25) |
C14 | n.d (n.d.–0.01) | n.d (n.d.) | n.d (n.d.–0.01) | n.d (n.d.–0.01) | 0.15 (0.15–0.28) |
C16 | n.d (n.d.) | n.d (n.d.) | n.d (n.d.) | n.d (n.d.) | 0.03 (0.01–0.03) |
C8/C2 | 1.14 (0.77–1.29) | 1.76 (0.79–2.89) | 0.17 (0.09–0.88) | 1.78 (0.18–6.50) | 0.32 (0.08–0.88) |
C8/C10 | 8.83 (7.20–67.20) | 7.67 (6.25–14.80) | 13.40 (1.00–29.27) | 6.50 (6.20–8.00) | 19.86 (13.43–25.10) |